Mutagenetix > Incidental Mutation

Incidental Mutation 'R1833:Qsox1'

204914

Institutional Source

Beutler Lab

Gene Symbol

Qsox1

Ensembl Gene

ENSMUSG00000033684

Gene Name

quiescin Q6 sulfhydryl oxidase 1

Synonyms

Qscn6, b2b2673Clo, QSOX, 1300003H02Rik

MMRRC Submission

039860-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.658) question?

Stock #

R1833 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

155653901-155688645 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 155666791 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 233 (G233S)

Ref Sequence

ENSEMBL: ENSMUSP00000142301 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035325] [ENSMUST00000111764] [ENSMUST00000194632]

AlphaFold

Q8BND5

Predicted Effect

probably benign
Transcript: ENSMUST00000035325
AA Change: G233S

PolyPhen 2 Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000035658
Gene: ENSMUSG00000033684
AA Change: G233S

Domain	Start	End	E-Value	Type
low complexity region	5	29	N/A	INTRINSIC
Pfam:Thioredoxin	46	149	9e-18	PFAM
low complexity region	276	286	N/A	INTRINSIC
Pfam:Evr1_Alr	408	507	7e-29	PFAM
low complexity region	679	692	N/A	INTRINSIC
low complexity region	693	705	N/A	INTRINSIC
transmembrane domain	709	731	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111764
AA Change: G233S

PolyPhen 2 Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000107394
Gene: ENSMUSG00000033684
AA Change: G233S

Domain	Start	End	E-Value	Type
low complexity region	5	29	N/A	INTRINSIC
Pfam:Thioredoxin	45	149	1.7e-18	PFAM
low complexity region	276	286	N/A	INTRINSIC
Pfam:Evr1_Alr	408	508	1.5e-28	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132495

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151368

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192644

Predicted Effect

probably benign
Transcript: ENSMUST00000194632
AA Change: G233S

PolyPhen 2 Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000142301
Gene: ENSMUSG00000033684
AA Change: G233S

Domain	Start	End	E-Value	Type
low complexity region	5	29	N/A	INTRINSIC
Pfam:Thioredoxin	45	149	1.3e-18	PFAM
low complexity region	276	286	N/A	INTRINSIC
Pfam:Evr1_Alr	408	508	1.2e-28	PFAM

Meta Mutation Damage Score

0.1091

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.9%

Validation Efficiency

99% (83/84)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that contains domains of thioredoxin and ERV1, members of two long-standing gene families. The gene expression is induced as fibroblasts begin to exit the proliferative cycle and enter quiescence, suggesting that this gene plays an important role in growth regulation. Two transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for an ENU-induced mutation show cardiovascular phenotypes including persistent truncus arteriosus, atriventricular septal defects and vascular ring, as well as eye defects, short snout, micrognathia, cleft palate, tracheosophageal fistula, polydactyly and spleen hypoplasia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003H04Rik	T	A	3: 124,350,509 (GRCm39)	D143V	unknown	Het
4930438A08Rik	C	T	11: 58,179,214 (GRCm39)	Q183*	probably null	Het
9230009I02Rik	A	G	11: 50,982,293 (GRCm39)		noncoding transcript	Het
Abhd12	T	A	2: 150,690,338 (GRCm39)	D119V	probably damaging	Het
Adam1b	A	G	5: 121,641,000 (GRCm39)	I15T	possibly damaging	Het
Agtpbp1	A	T	13: 59,613,797 (GRCm39)		probably null	Het
Arfgef1	G	C	1: 10,275,115 (GRCm39)	I312M	probably benign	Het
Arid4a	C	T	12: 71,122,240 (GRCm39)	L874F	possibly damaging	Het
Bcas3	G	A	11: 85,474,775 (GRCm39)	V317I	probably benign	Het
Ccr1	T	A	9: 123,764,126 (GRCm39)	I135F	probably damaging	Het
Ces2h	A	G	8: 105,747,005 (GRCm39)	E547G	possibly damaging	Het
Ces3b	T	A	8: 105,812,271 (GRCm39)	D173E	probably damaging	Het
Chd3	A	G	11: 69,244,949 (GRCm39)	L1197S	probably damaging	Het
Cngb1	A	G	8: 95,968,983 (GRCm39)	L1175P	probably damaging	Het
Cyp4f17	T	C	17: 32,743,184 (GRCm39)	F286L	probably benign	Het
Dclre1a	C	T	19: 56,529,932 (GRCm39)		probably null	Het
Dennd6a	T	A	14: 26,328,109 (GRCm39)	L44H	probably damaging	Het
Dhx16	A	G	17: 36,196,511 (GRCm39)	T560A	probably benign	Het
Dusp12	T	C	1: 170,702,022 (GRCm39)	M326V	probably benign	Het
Eif3k	T	C	7: 28,670,852 (GRCm39)	I180V	probably benign	Het
Erc1	A	G	6: 119,720,390 (GRCm39)	I437T	possibly damaging	Het
Farp2	T	A	1: 93,504,086 (GRCm39)		probably benign	Het
Foxa3	A	G	7: 18,748,499 (GRCm39)	L209P	probably damaging	Het
Garin2	G	A	12: 78,762,280 (GRCm39)		probably benign	Het
Gen1	A	T	12: 11,298,352 (GRCm39)		probably benign	Het
Gm10305	A	G	4: 99,161,363 (GRCm39)	T91A	unknown	Het
Gm14412	T	C	2: 177,007,583 (GRCm39)	D104G	probably benign	Het
Gm6900	T	C	7: 10,390,515 (GRCm39)		noncoding transcript	Het
Gpx1	A	T	9: 108,216,555 (GRCm39)	Y15F	possibly damaging	Het
H2-M10.3	T	C	17: 36,678,387 (GRCm39)	Y146C	probably damaging	Het
H2-Q7	C	A	17: 35,658,675 (GRCm39)	S104R	probably benign	Het
Hephl1	T	C	9: 14,988,224 (GRCm39)	Y628C	probably damaging	Het
Hspa5	T	A	2: 34,666,065 (GRCm39)	Y636*	probably null	Het
Htt	A	G	5: 35,063,092 (GRCm39)		probably benign	Het
Idh1	T	C	1: 65,200,273 (GRCm39)	I364V	probably benign	Het
Itgae	G	T	11: 73,007,988 (GRCm39)	A423S	possibly damaging	Het
Kng2	T	C	16: 22,830,802 (GRCm39)	N169S	possibly damaging	Het
Larp4b	C	T	13: 9,201,235 (GRCm39)	T369I	possibly damaging	Het
Lcor	T	C	19: 41,573,387 (GRCm39)	I714T	probably benign	Het
Lhfpl7	A	G	5: 113,382,435 (GRCm39)		probably benign	Het
Lonrf2	G	A	1: 38,852,357 (GRCm39)	P165S	probably benign	Het
Magi2	G	T	5: 19,432,455 (GRCm39)	G57C	probably damaging	Het
Mdn1	T	A	4: 32,720,761 (GRCm39)	H2291Q	probably damaging	Het
Mgam	T	C	6: 40,631,652 (GRCm39)		probably null	Het
Micall2	A	G	5: 139,702,508 (GRCm39)	V245A	probably benign	Het
Mipep	T	G	14: 61,109,512 (GRCm39)	Y630D	probably damaging	Het
Msx2	A	T	13: 53,622,221 (GRCm39)	M263K	probably damaging	Het
Nectin2	G	T	7: 19,451,633 (GRCm39)	P467H	probably damaging	Het
Nek10	A	T	14: 14,842,789 (GRCm38)	M165L	probably benign	Het
Nlrp4b	A	T	7: 10,459,863 (GRCm39)	M455L	probably benign	Het
Oaz3	TGGAGGCAGGAGCACGGGAGGCAGGAGCACGGGAGGCAG	TGGAGGCAGGAGCACGGGAGGCAG	3: 94,343,349 (GRCm39)		probably benign	Het
Or10ad1b	T	A	15: 98,124,846 (GRCm39)	I227F	probably damaging	Het
Or4c10	T	A	2: 89,760,645 (GRCm39)	L164*	probably null	Het
Pcx	T	A	19: 4,669,132 (GRCm39)	V710E	probably damaging	Het
Pkn2	C	T	3: 142,527,408 (GRCm39)	R347Q	probably damaging	Het
Pramel51	T	C	12: 88,145,218 (GRCm39)	E44G	possibly damaging	Het
Rbl1	T	A	2: 157,037,475 (GRCm39)	N224I	probably damaging	Het
Rspry1	A	G	8: 95,362,116 (GRCm39)	T132A	probably damaging	Het
Sclt1	A	G	3: 41,681,546 (GRCm39)	V91A	probably damaging	Het
Sema4f	A	T	6: 82,895,540 (GRCm39)	L331H	probably benign	Het
Sf3b3	T	A	8: 111,544,198 (GRCm39)	Q814L	probably benign	Het
Slc19a2	T	G	1: 164,089,753 (GRCm39)	Y190D	probably damaging	Het
Smarcc1	T	A	9: 109,982,879 (GRCm39)	H204Q	possibly damaging	Het
Sox6	T	C	7: 115,376,328 (GRCm39)	K135E	probably damaging	Het
Tecpr1	T	C	5: 144,145,426 (GRCm39)	Q607R	probably damaging	Het
Tgfb1i1	A	G	7: 127,848,670 (GRCm39)		probably benign	Het
Tirap	T	G	9: 35,099,999 (GRCm39)	R228S	probably benign	Het
Trp53bp2	T	A	1: 182,256,581 (GRCm39)	H50Q	probably damaging	Het
Try4	A	G	6: 41,280,365 (GRCm39)	H63R	probably damaging	Het
Vmn2r25	G	A	6: 123,816,643 (GRCm39)	P313S	probably benign	Het
Vps26a	A	C	10: 62,294,825 (GRCm39)	L250V	probably benign	Het
Vwf	A	G	6: 125,619,000 (GRCm39)	H1226R	probably benign	Het
Wdtc1	TCC	TC	4: 133,036,053 (GRCm39)		probably benign	Het
Zc3hav1l	A	T	6: 38,274,881 (GRCm39)		probably benign	Het
Zfp119b	T	G	17: 56,246,271 (GRCm39)	H305P	probably damaging	Het
Zfp326	C	T	5: 106,039,035 (GRCm39)	Q134*	probably null	Het
Zfp975	C	T	7: 42,311,263 (GRCm39)	R450Q	probably benign	Het
Zfyve26	A	T	12: 79,333,032 (GRCm39)	M313K	probably benign	Het
Zscan5b	T	C	7: 6,241,965 (GRCm39)	S395P	possibly damaging	Het

Other mutations in Qsox1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02392:Qsox1	APN	1	155,688,346 (GRCm39)	missense	probably damaging	1.00
BB003:Qsox1	UTSW	1	155,688,533 (GRCm39)	missense	unknown
BB013:Qsox1	UTSW	1	155,688,533 (GRCm39)	missense	unknown
R1799:Qsox1	UTSW	1	155,670,364 (GRCm39)	missense	probably null
R1874:Qsox1	UTSW	1	155,688,385 (GRCm39)	missense	possibly damaging	0.85
R4282:Qsox1	UTSW	1	155,662,671 (GRCm39)	critical splice acceptor site	probably null
R4938:Qsox1	UTSW	1	155,655,414 (GRCm39)	missense	probably benign	0.01
R5081:Qsox1	UTSW	1	155,688,581 (GRCm39)	utr 5 prime	probably benign
R5217:Qsox1	UTSW	1	155,666,742 (GRCm39)	missense	probably benign	0.00
R5303:Qsox1	UTSW	1	155,655,039 (GRCm39)	missense	probably benign	0.01
R5761:Qsox1	UTSW	1	155,655,274 (GRCm39)	missense	probably benign
R5763:Qsox1	UTSW	1	155,655,625 (GRCm39)	missense	probably benign
R5932:Qsox1	UTSW	1	155,665,079 (GRCm39)	missense	probably benign
R6765:Qsox1	UTSW	1	155,666,851 (GRCm39)	missense	probably benign	0.00
R6802:Qsox1	UTSW	1	155,671,139 (GRCm39)	missense	probably damaging	1.00
R7926:Qsox1	UTSW	1	155,688,533 (GRCm39)	missense	unknown
R8857:Qsox1	UTSW	1	155,658,333 (GRCm39)	missense	possibly damaging	0.50
R8986:Qsox1	UTSW	1	155,666,829 (GRCm39)	missense	probably damaging	1.00
R9359:Qsox1	UTSW	1	155,658,343 (GRCm39)	missense	probably damaging	1.00
R9366:Qsox1	UTSW	1	155,665,162 (GRCm39)	missense	probably benign	0.01
R9403:Qsox1	UTSW	1	155,658,343 (GRCm39)	missense	probably damaging	1.00
R9621:Qsox1	UTSW	1	155,671,135 (GRCm39)	frame shift	probably null
R9803:Qsox1	UTSW	1	155,658,416 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGGAATCCTGAGCTGCAAGG -3'
(R):5'- ACTTTGTCACAGCGGTCTG -3'

Sequencing Primer
(F):5'- GTCGGAGGTCTTGACTCACACATC -3'
(R):5'- TAGAACATAGCTGCTACCTGGTGC -3'

Posted On

2014-06-23